% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Ypez:281733,
      author       = {Yépez, Vicente A and Demidov, German and Ellwanger,
                      Kornelia and Laurie, Steven and Luknárová, Rebeka and
                      Joseph Maran, Midhuna Immaculate and Hentrich, Thomas and
                      Sagath, Lydia and van der Sanden, Bart and Astuti, Galuh and
                      Neveling, Kornelia and Batlle-Masó, Laura and Beijer,
                      Danique and Brechtmann, Felix and Caballero-Oteyza, Andrés
                      and Dabad, Marc and Denommé-Pichon, Anne-Sophie and
                      Doornbos, Cenna and Eddafir, Zakaria and Estévez-Arias,
                      Berta and Kilicarslan, Ozge Aksel and Kolen, Ingrid H M and
                      Kraß, Leon and Lohmann, Katja and Londhe, Shubhankar and
                      López-Martín, Estrella and Maassen, Kars and Macken,
                      William and Martínez-Delgado, Beatriz and Mei, Davide and
                      Mertes, Christian and Minardi, Raffaella and Morsy, Heba and
                      Mueller, Juliane S and Natera-de Benito, Daniel and Nelson,
                      Isabelle and Oud, Machteld M and Paramonov, Ida and Picó,
                      Daniel and Piscia, Davide and Polavarapu, Kiran and Raineri,
                      Emanuele and Savarese, Marco and Smal, Noor and Steehouwer,
                      Marloes and Steyaert, Wouter and Swertz, Morris A and
                      Thomsen, Mirja and Töpf, Ana and Van de Vondel, Liedewei
                      and van der Vries, Gerben and Vitobello, Antonio and Wilke,
                      Carlo and Zurek, Birte and T' Hoen, Peter-Bram and
                      Matalonga, Leslie and Vissers, Lisenka E L M and Gilissen,
                      Christian and Schulze-Hentrich, Julia and Beltran, Sergi and
                      Esteve-Codina, Anna and Hoischen, Alexander and Gagneur,
                      Julien and Graessner, Holm},
      collaboration = {DITF-EPICARE, Solve-RD and DITF-ITHACA, Solve-RD and
                      DITF-EURO-NMD, Solve-RD and DITF-RITA, Solve-RD and
                      DITF-RND, Solve-RD and consortium, Solve-RD},
      title        = {{T}he {S}olve-{RD} {S}olvathons as a pan-{E}uropean
                      interdisciplinary collaboration to diagnose patients with
                      rare disease.},
      journal      = {Nature genetics},
      volume       = {57},
      number       = {10},
      issn         = {1061-4036},
      address      = {London},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DZNE-2025-01166},
      pages        = {2361 - 2370},
      year         = {2025},
      abstract     = {Despite advances in genomic diagnostics, the majority of
                      individuals with rare diseases remain without a confirmed
                      genetic diagnosis. The rapid emergence of advanced omics
                      technologies, such as long-read genome sequencing, optical
                      genome mapping and multiomic profiling, has improved
                      diagnostic yield but also substantially increased analytical
                      and interpretational complexity. Addressing this complexity
                      requires systematic multidisciplinary collaboration, as
                      recently demonstrated by targeted diagnostic workshops.
                      Here, we highlight the experience of the Solve-RD
                      consortium, a pan-European initiative, in implementing four
                      structured workshops, termed 'Solvathons', as a regular and
                      effective component of its operational workflow. We provide
                      actionable insights, best practices and lessons learned for
                      successful data integration, expert training and scalable
                      collaborative diagnostics within large research consortia.},
      keywords     = {Rare Diseases: diagnosis / Rare Diseases: genetics / Humans
                      / Europe / Genomics: methods / Genetic Testing: methods},
      cin          = {AG Gasser},
      ddc          = {570},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40926087},
      doi          = {10.1038/s41588-025-02290-3},
      url          = {https://pub.dzne.de/record/281733},
}